Multiple causal variants underlie genetic associations in humans
Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma
To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we
performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases …
performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases …
Neonatal rhesus macaques have distinct immune cell transcriptional profiles following HIV envelope immunization
HIV-1-infected infants develop broadly neutralizing antibodies (bnAbs) more rapidly than
adults, suggesting differences in the neonatal versus adult responses to the HIV-1 envelope …
adults, suggesting differences in the neonatal versus adult responses to the HIV-1 envelope …
[HTML][HTML] Common risk variants in AHI1 are associated with childhood steroid sensitive nephrotic syndrome
Introduction Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of
kidney disease in children worldwide. Genome-wide association studies (GWAS) have …
kidney disease in children worldwide. Genome-wide association studies (GWAS) have …
[PDF][PDF] The Functional Characterisation of Risk Loci Associated to Musculoskeletal Diseases
A Frantzeskos - 2023 - research.manchester.ac.uk
Genetic diseases can be classified along a spectrum based on the number of genes and
genetic variants involved in their development. On one end of the spectrum are Mendelian …
genetic variants involved in their development. On one end of the spectrum are Mendelian …
Identification of new predictive biomarkers and characterization of molecular mechanisms of drug-resistance in chronic myeloid leukemia
R Yen - 2022 - open.library.ubc.ca
Abstract Treatment of BCR-ABL1⁺ human leukemia, especially for early phase chronic
myeloid leukemia (CML) patients, has been greatly improved by ABL tyrosine kinase …
myeloid leukemia (CML) patients, has been greatly improved by ABL tyrosine kinase …
Using genetics to understand childhood nephrotic syndromes
ML Downie - 2022 - discovery.ucl.ac.uk
Idiopathic nephrotic syndrome (INS) is classified in children according to response to initial
corticosteroid therapy into steroid sensitive (SSNS) and steroid resistant nephrotic syndrome …
corticosteroid therapy into steroid sensitive (SSNS) and steroid resistant nephrotic syndrome …
[图书][B] Integrating Statistical and Multiplex Functional Genomics to Interpret Non-Coding Human Genetic Variation
NS Abell - 2021 - search.proquest.com
Human genetics connects natural genetic variation with molecular and organism
phenotypes, yet the space of human genetic variation is vast and almost entirely non-coding …
phenotypes, yet the space of human genetic variation is vast and almost entirely non-coding …
[PDF][PDF] Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma
AJ Strandmann18, A Engert20, N Orr19, K Hemminki… - core.ac.uk
To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we
performed a meta-analysis of seven genome-wide association studies totalling 5,325 HL …
performed a meta-analysis of seven genome-wide association studies totalling 5,325 HL …
[图书][B] A Role for Abelson Helper Integration Site-1 (AHI1) in Murine Muscular Development and Function Independent of the Central Nervous System
JR Bourgeois - 2019 - search.proquest.com
Joubert syndrome (JBTS) is a predominantly autosomal recessive neurodevelopmental
disorder that presents with characteristic malformations of the cerebellar vermis, superior …
disorder that presents with characteristic malformations of the cerebellar vermis, superior …